Distal Spinal Muscular Atrophy Type 3 (DSMA3)

Alias:
Autosomal Recessive Distal Spinal Muscular Atrophy Type 3
Distal Hereditary Motor Neuropathy Type 3 and Type 4
Dhmn3 and Dhmn4
Dsma3
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Distal Spinal Muscular Atrophy Type 3, also known as autosomal recessive distal spinal muscular atrophy type 3, is related to neuronopathy, distal hereditary motor, x-linked and neuronopathy, distal hereditary motor, autosomal recessive 3. An important gene associated with Distal Spinal Muscular Atrophy Type 3 is ATP7A (ATPase Copper Transporting Alpha), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport.
Related ID:
MESH:C564626

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
<1/1000000
10
87
--

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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No Data Found!
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